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https://www.readbyqxmd.com/read/29457277/polymorphisms-of-cyp27b1-are-associated-with-ifn-efficacy-in-hbeag-positive-patients
#1
Yingying Wu, Yongbin Zeng, Wennan Wu, Jinpiao Lin, Qishui Ou
BACKGROUND: Host single nucleotide polymorphisms were associated with antiviral therapy in CHB patients. The CYP27B1 gene, encoding 25(OH)D3 -1α hydroxylase, might activate 25(OH)D3 to 1,25(OH)2 D3 in kidney resulted in influencing the efficacy of interferon (IFN). The aim of the study was to investigate the association between CYP27B1 polymorphisms and the response to IFN in HBeAg-positive patients. METHODS: Eighty-seven HBeAg-positive CHB patients infected with HBV genotype B or C were included in the study...
February 18, 2018: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/29454979/variants-of-tlr1-associated-with-tuberculosis-susceptibility-in-the-chinese-tibetan-population-but-not-in-han-chinese
#2
Miaomiao Zhang, Xiaoyan Tang, Yu Wang, Shouquan Wu, Minggui Wang, Qianqian Liu, Andrew J Sandford, Jian-Qing He
Toll-like receptor 1 (TLR1) participates in the innate immune response to Mycobacterium tuberculosis. This study mainly investigated the relationship between polymorphisms of TLR1 and tuberculosis (TB) susceptibility in the two Chinese populations. Totally, 1185 Han and 1216 Tibetan participants were enrolled. TagSNPs of TLR1 were selected and genotyped. Analyses of linkage disequilibrium and haplotypes were performed by software Haploview and SHEsis. Gene-gene interactions were evaluated using the nonparametric multifactor dimensionality reduction (MDR) method...
February 15, 2018: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/29450669/association-of-tert-clptm1l-and-8q24-common-genetic-variants-with-gallbladder-cancer-susceptibility-and-prognosis-in-north-indian-population
#3
Saurabh Yadav, Abhijit Chandra, Ashok Kumar, Balraj Mittal
Gallbladder carcinoma (GBC) is one of the common malignancy of the biliary tract. Several genome wide and candidate gene studies have reported associations between multiple cancer types and single-nucleotide polymorphisms on 5p15.33 and 8q24.21 loci. However, predisposition potential of these genetic variants has not been assessed in GBC. We performed the present study to assess the potential of five polymorphisms on 5p15.33 and one on 8q24.21 locus in GBC risk and treatment response in patients undergoing chemoradiotherapy...
February 15, 2018: Biochemical Genetics
https://www.readbyqxmd.com/read/29450643/variants-in-fix-propeptide-associated-with-vitamin-k-antagonist-hypersensitivity-functional-analysis-and-additional-data-confirming-the-common-founder-mutations
#4
Behnaz Pezeshkpoor, Katrin J Czogalla, Michael Caspers, Ann-Cristin Berkemeier, Kerstin Liphardt, Suvoshree Ghosh, Marco Kellner, Silvia Ulrich, Anna Pavlova, Johannes Oldenburg
One of the most common and unwanted side effects during oral anticoagulant therapy (OAT) is bleeding complications. In rare cases, vitamin K antagonist (VKA)-related bleeding events are associated with mutations affecting the F9 propeptide at amino acid position 37 due to a substitution of alanine to either valine or threonine. Based on our actual cohort of 18 patients, we update the knowledge on this rare phenotype and its origin. A founder mutation for both variants was reconfirmed by haplotype analysis of intronic and extragenic short tandem repeat (STR) polymorphisms with a higher prevalence in Switzerland than in other regions of Europe...
February 15, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/29449853/targeted-haplotype-comparisons-between-south-african-wheat-cultivars-appear-predictive-of-pre-harvest-sprouting-tolerance
#5
Scott L Sydenham, Annelie Barnard
Pre-harvest sprouting (PHS) has been a serious production constraint for over two decades, especially in the summer rainfall wheat production regions of South Africa. It is a complex genetic trait controlled by multiple genes, which are significantly influenced by environmental conditions. This complicates the accurate prediction of a cultivar's stability in terms of PHS tolerance. A number of reports have documented the presence of major QTL on chromosomes 3A and 4A of modern bread wheat cultivars, which confer PHS tolerance...
2018: Frontiers in Plant Science
https://www.readbyqxmd.com/read/29447209/haplotype-based-genome-wide-association-study-identifies-loci-and-candidate-genes-for-milk-yield-in-holsteins
#6
Zhenliang Chen, Yunqiu Yao, Peipei Ma, Qishan Wang, Yuchun Pan
Since milk yield is a highly important economic trait in dairy cattle, the genome-wide association study (GWAS) is vital to explain the genetic architecture underlying milk yield and to perform marker-assisted selection (MAS). In this study, we adopted a haplotype-based empirical Bayesian GWAS to identify the loci and candidate genes for milk yield. A total of 1 092 Holstein cows were sequenced by using the genotyping by genome reducing and sequencing (GGRS) method. After filtering, 164 312 high-confidence SNPs and 13 476 haplotype blocks were identified to use for GWAS...
2018: PloS One
https://www.readbyqxmd.com/read/29446344/genotype-characterization-of-livestock-and-human-cystic-echinococcosis-in-mazandaran-province-iran
#7
T Gorgani-Firouzjaee, N Kalantrai, S Ghaffari, J Alipour, S Siadati
Echinococcus granulosus is a helminth from the family Taeniidae, which causes cystic echinococcosis (CE) in humans and diverse livestock around the world. The identification of existing genotypes in different regions is a major step towards the prevention and establishment of control programmes for the disease. This study aimed to detect CE genotypes using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) of the internal transcribed spacer-1 (ITS1) gene and sequencing of the cytochrome c oxidase subunit 1 (Cox1) gene in isolates from the central part of Mazandaran province, northern Iran...
February 15, 2018: Journal of Helminthology
https://www.readbyqxmd.com/read/29445620/genetic-analysis-of-maternal-and-paternal-lineages-in-kabardian-horses-by-uniparental-molecular-markers
#8
Aliybek D Khaudov, Astemir S Duduev, Zaur A Kokov, Khazhismel K Amshokov, Mohamed Kh Zhekamukhov, Alexander M Zaitsev, Monika Reissmann
Studies of mitochondrial DNA (mtDNA) as well as the non-recombining part of the Y chromosome help to understand the origin and distribution of maternal and paternal lineages. The Kabardian horse from Northern Caucasia which is well-known for strength, stamina and endurance in distance riding has a large gap in its breeding documentation especially in the recent past. A 309 bp fragment of the mitochondrial D-loop (156 Kabardian horses) and six mutations in Y chromosome (49 Kabardian stallions), respectively, were analyzed to get a better insight into breeding history, phylogenetic relationship to related breeds, maternal and paternal diversity and genetic structure...
2018: Open Veterinary Journal
https://www.readbyqxmd.com/read/29444077/peculiar-combinations-of-individually-non-pathogenic-missense-mitochondrial-dna-variants-cause-low-penetrance-leber-s-hereditary-optic-neuropathy
#9
Leonardo Caporali, Luisa Iommarini, Chiara La Morgia, Anna Olivieri, Alessandro Achilli, Alessandra Maresca, Maria Lucia Valentino, Mariantonietta Capristo, Francesca Tagliavini, Valentina Del Dotto, Claudia Zanna, Rocco Liguori, Piero Barboni, Michele Carbonelli, Veronica Cocetta, Monica Montopoli, Andrea Martinuzzi, Giovanna Cenacchi, Giuseppe De Michele, Francesco Testa, Anna Nesti, Francesca Simonelli, Anna Maria Porcelli, Antonio Torroni, Valerio Carelli
We here report on the existence of Leber's hereditary optic neuropathy (LHON) associated with peculiar combinations of individually non-pathogenic missense mitochondrial DNA (mtDNA) variants, affecting the MT-ND4, MT-ND4L and MT-ND6 subunit genes of Complex I. The pathogenic potential of these mtDNA haplotypes is supported by multiple evidences: first, the LHON phenotype is strictly inherited along the maternal line in one very large family; second, the combinations of mtDNA variants are unique to the two maternal lineages that are characterized by recurrence of LHON; third, the Complex I-dependent respiratory and oxidative phosphorylation defect is co-transferred from the proband's fibroblasts into the cybrid cell model...
February 14, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29439855/catechol-o-methyltransferase-comt-genetic-variants-are-associated-with-cognitive-decline-in-patients-with-parkinson-s-disease
#10
Chin-Hsien Lin, Jun-Yu Fan, Han-I Lin, Chia-Wen Chang, Yih-Ru Wu
OBJECTIVE: Catechol-O-methyltransferase (COMT), an enzyme that catalyzes the degradation of dopamine, is necessary for both motor and cognitive functions. Few studies have examined the association between COMT variants and cognition in patients with Parkinson's disease (PD). METHODS: We assessed a cohort of 409 PD patients without dementia who were regularly followed for two years. The Unified Parkinson's Disease Rating Scale (UPDRS) and Mini-Mental State Examination (MMSE) were administered at baseline and during the follow-up...
February 9, 2018: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/29437498/association-of-wnt-pathway-genes-with-nonsyndromic-cleft-lip-with-or-without-cleft-palate
#11
V Vijayan, R Ummer, R Weber, R Silva, A Letra
OBJECTIVE: Nonsyndromic cleft lip with or without cleft palate (NSCL±P) is a common craniofacial anomaly with multifactorial etiology. Evidence suggests that variations in WNT pathway genes contribute to an increased susceptibility to NSCL±P. The aim of this study was to investigate the association of AXIN1, APC, CTNNB1, DVL2, and GSK3β gene variants with NSCL±P in a case-control data set from Brazil. PATIENTS: 471 individuals with NSCL±P and 504 unrelated control individuals of Caucasian ethnicity...
March 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29435231/mitochondrial-dna-variation-reveals-maternal-origins-and-demographic-dynamics-of-ethiopian-indigenous-goats
#12
Getinet Mekuriaw Tarekegn, Kassahun Tesfaye, Okeyo Ally Mwai, Appolinaire Djikeng, Tadelle Dessie, Josephine Birungi, Sarah Osama, Netsanet Zergaw, Alubel Alemu, Gloria Achieng, Jack Tutah, Collins Mutai, Joyce Njuguna, Joram M Mwacharo
The Horn of Africa forms one of the two main historical entry points of domestics into the continent and Ethiopia is particularly important in this regard. Through the analysis of mitochondrial DNA (mtDNA) d-loop region in 309 individuals from 13 populations, we reveal the maternal genetic variation and demographic dynamics of Ethiopian indigenous goats. A total of 174 variable sites that generated 231 haplotypes were observed. They defined two haplogroups that were present in all the 13 study populations. Reference haplotypes from the six globally defined goat mtDNA haplogroups show the two haplogroups present in Ethiopia to be A and G, the former being the most predominant...
February 2018: Ecology and Evolution
https://www.readbyqxmd.com/read/29434813/association-between-vascular-endothelial-growth-factor-promoter-polymorphisms-and-the-risk-of-recurrent-implantation-failure
#13
Sung Han Shim, Jung Oh Kim, Young Joo Jeon, Hui Jeong An, Hyun Ah Lee, Ji Hyang Kim, Eun Hee Ahn, Woo Sik Lee, Nam Keun Kim
The objective of the present study was to investigate the association between recurrent implantation failure (RIF) and vascular endothelial growth factor (VEGF) gene polymorphisms that are associated with various female infertility disorders. A total of 116 women diagnosed with RIF and 218 control subjects were genotyped for the VEGF -2578C>A, -1154G>A, -634C>G and 936C>T polymorphisms using a polymerase chain reaction-restriction fragment length polymorphism assay. The VEGF -2578AA genotype was associated with an increased prevalence (≥4) of RIF [adjusted odds ratio (AOR)=2...
February 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29433434/sequence-variation-and-functional-analysis-of-a-frigida-orthologue-bnaa3-fri-in-brassica-napus
#14
Licong Yi, Chunhong Chen, Shuai Yin, Haitao Li, Zhaohong Li, Bo Wang, Graham J King, Jing Wang, Kede Liu
BACKGROUND: Allelic variation at the FRIGIDA (FRI) locus is a major contributor to natural variation of flowering time and vernalization requirement in Arabidopsis thaliana. Dominant FRI inhibits flowering by activating the expression of the MADS box transcriptional repressor FLOWERING LOCUS C (FLC), which represses flowering prior to vernalization. Four FRI orthologues had been identified in the domesticated amphidiploid Brassica napus. Linkage and association studies had revealed that one of the FRI orthologues, BnaA3...
February 13, 2018: BMC Plant Biology
https://www.readbyqxmd.com/read/29433058/defining-mtdna-origins-and-population-stratification-in-rio-de-janeiro
#15
Filipa Simão, Ana Paula Ferreira, Elizeu Fagundes de Carvalho, Walther Parson, Leonor Gusmão
The genetic composition of the Brazilian population was shaped by interethnic admixture between autochthonous Native Americans, Europeans settlers and African slaves. This structure, characteristic of most American populations, implies the need for large population forensic databases to capture the high diversity that is usually associated with admixed populations. In the present work, we sequenced the control region of mitochondrial DNA from 205 non-related individuals living in the Rio de Janeiro metropolitan region...
February 6, 2018: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29429541/association-of-the-gly482ser-ppargc1a-gene-variant-with-different-cholesterol-outcomes-in-response-to-two-energy-restricted-diets-in-subjects-with-excessive-weight
#16
Omar Ramos-Lopez, Jose I Riezu-Boj, Fermin I Milagro, Leticia Goni, Marta Cuervo, Jose A Martinez
OBJECTIVES: The aim of this study was to investigate the influence of two PPARGC1A gene polymorphisms on metabolic outcomes in response to two energy-restricted diets. METHODS: A 4-mo nutritional intervention was conducted that involved two different hypo-energetic diets based on low-fat (LF) and moderately high-protein (MHP) dietary patterns. Unrelated subjects with excessive weight were genotyped for two PPARGC1A polymorphisms: Rs8192678 (Gly482Ser) and rs3755863 (G > A)...
March 2018: Nutrition
https://www.readbyqxmd.com/read/29428968/differentiation-analysis-for-estimating-individual-ancestry-from-the-tibetan-plateau-by-an-archaic-altitude-adaptation-epas1-haplotype-among-east-asian-populations
#17
Li Jiang, Jianxiong Peng, Meisha Huang, Jing Liu, Ling Wang, Quan Ma, Hui Zhao, Xin Yang, Anquan Ji, Caixia Li
Tibetans have adapted to the extreme environment of high altitude for hundreds of generations. A highly differentiated 5-SNP (Single Nucleotide Polymorphism) haplotype motif (AGGAA) on a hypoxic pathway gene, EPAS1, is observed in Tibetans and lowlanders. To evaluate the potential usage of the 5-SNP haplotype in ancestry inference for Tibetan or Tibetan-related populations, we analyzed this haplotype in 1053 individuals of 12 Chinese populations residing on the Tibetan Plateau, peripheral regions of Tibet, and plain regions...
February 10, 2018: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29428509/evolution-of-hypolimnas-butterflies-nymphalidae-out-of-africa-origin-and-wolbachia-mediated-introgression
#18
Ranjit Kumar Sahoo, David J Lohman, Niklas Wahlberg, Chris J Müller, Oskar Brattström, Steve C Collins, Djunijanti Peggie, Kwaku Aduse-Poku, Ullasa Kodandaramaiah
Hypolimnas butterflies (Nymphalidae), commonly known as eggflies, are a popular model system for studying a wide range of ecological questions including mimicry, polymorphism, wing pattern evolution, and Wolbachia-host interactions. The lack of a time-calibrated phylogeny for this group has precluded understanding its evolutionary history. We reconstruct a species-level phylogeny using a nine gene dataset and estimate species divergence times. Based on the resulting tree, we investigate the taxon's historical biogeography, examine the evolution of host plant preferences, and test the hypothesis that the endosymbiotic bacterium Wolbachia mediates gene transfer between species...
February 8, 2018: Molecular Phylogenetics and Evolution
https://www.readbyqxmd.com/read/29427763/global-distribution-of-na1-genotype-of-respiratory-syncytial-virus-and-its-evolutionary-dynamics-assessed-from-the-past-11%C3%A2-years
#19
Md Shakir Hussain Haider, Farah Deeba, Wajihul Hasan Khan, Irshad H Naqvi, Sher Ali, Anwar Ahmed, Shobha Broor, Hytham A Alsenaidy, Abdulrahman M Alsenaidy, Shama Parveen
Respiratory syncytial virus (RSV) is a potent pathogen having global distribution. The main purpose of this study was to gain an insight into distribution pattern of the NA1 genotype of group A RSV across the globe together with its evolutionary dynamics. We focused on the second hypervariable region of the G protein gene and used the same for Phylogenetic, Bayesian and Network analyses. Eighteen percent of the samples collected from 500 symptomatic pediatric patients with acute respiratory tract infection (ARI) were found to be positive for RSV during 2011-15 from New Delhi, India...
February 7, 2018: Infection, Genetics and Evolution
https://www.readbyqxmd.com/read/29427107/origins-and-spread-of-machado-joseph-disease-ancestral-mutations-events
#20
Sandra Martins, Jorge Sequeiros
Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia reported worldwide, but it shows marked geographic differences in prevalence. The study of ancestral origins and spreading routes of MJD mutational events has contributed to explain such differences. During human evolution, at least two independent de novo MJD expansions occurred in distinct haplotype backgrounds: TTACAC and GTGGCA (named Joseph and Machado lineages). The most ancient Joseph lineage, probably of Asian origin, has been introduced recently in Europe, where founder effects are responsible for the high MJD prevalence, as occurs in the Portuguese/Azorean island of Flores and Northeastern mainland...
2018: Advances in Experimental Medicine and Biology
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